Canonical Allele Identifier: CA1044996223

Gene: VHL

Linked Data

• dbSNP Id: rs34726585
• gnomAD v3: 3-10144305-T-TAAA
• gnomAD v4: 3-10144305-T-TAAA

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10144317_10144319dup , CM000665.2:g.10144317_10144319dup	GRCh38
NC_000003.11:g.10186001_10186003dup , CM000665.1:g.10186001_10186003dup	GRCh37
NC_000003.10:g.10161001_10161003dup	NCBI36
NG_008212.3:g.7683_7685dup , LRG_322:g.7683_7685dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*17+1296_*17+1298dup	ENSP00000512434.1:n.*17+1296_*17+1298dup
ENST00000696143.1:c.599+1296_599+1298dup	ENSP00000512435.1:n.599+1296_599+1298dup
ENST00000696153.1:c.340+2130_340+2132dup	ENSP00000512444.1:n.340+2130_340+2132dup
ENST00000256474.3:c.340+2130_340+2132dup MANE Select	ENSP00000256474.3:n.340+2130_340+2132dup
ENST00000256474.2:c.340+2130_340+2132dup	ENSP00000256474.2:n.340+2130_340+2132dup
ENST00000345392.2:c.340+2130_340+2132dup	ENSP00000344757.2:n.340+2130_340+2132dup
ENST00000477538.1:n.476+1296_476+1298dup
NM_000551.3:c.340+2130_340+2132dup , LRG_322t1:c.340+2130_340+2132dup	NP_000542.1:n.340+2130_340+2132dup
NM_198156.2:c.340+2130_340+2132dup	NP_937799.1:n.340+2130_340+2132dup
XM_011534078.1:c.*17+1296_*17+1298dup	XP_011532380.1:n.*17+1296_*17+1298dup
NM_001354723.1:c.*17+1296_*17+1298dup	NP_001341652.1:n.*17+1296_*17+1298dup
NM_000551.4:c.340+2130_340+2132dup MANE Select	NP_000542.1:n.340+2130_340+2132dup
NM_001354723.2:c.*17+1296_*17+1298dup	NP_001341652.1:n.*17+1296_*17+1298dup
NM_198156.3:c.340+2130_340+2132dup	NP_937799.1:n.340+2130_340+2132dup